{
    "disease_id": "DOID:0081446",
    "recommended_name": {
        "id": "DOID:0081446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081446",
        "name": "dimethylglycine dehydrogenase deficiency",
        "description": "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH gene on chromosome 5q14."
    },
    "synonyms": [
        {
            "id": "DOID:0081446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081446",
            "name": "DMG dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase deficiency",
            "description": "An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder."
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMG dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMGDH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "dimethylglycine dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "disorder of dimethylglycine dehydrogenase activity",
            "description": ""
        },
        {
            "id": "MONDO:0011610",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011610",
            "name": "DMGDHD",
            "description": ""
        },
        {
            "id": "MIM:605850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605850",
            "name": "DMGDH deficiency",
            "description": "DMGDH deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081446"
    ],
    "unlinked_id_list": []
}